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Objective . To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a  SCN9A  channelopathy.  Setting . Academic tertiary care center.  Design . Case report.  Case Report . A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function  SCN9A  mutation by whole exome sequencing. This mutation resulted in an  SCN9A  channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. In addition to the patient being diagnosed, four siblings have a clinical diagnosis of  SCN9A  channelopathy as they have consistent symptoms and a sister with a known mutation. For treatment, gabapentin was ineffective and carbamazepine was not tolerated. Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback.  Conclusion . Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a  SCN9A  channelopathy and constipation.

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder